{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10321549",
  "communityStandardTitle": [
    "NM_001953.5(TYMP):c.858G>A (p.Glu286=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=338593[alleleid]",
        "alleleId": 338593,
        "preferredName": "NM_001953.5(TYMP):c.858G>A (p.Glu286=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/342145",
        "RCV": [
          "RCV000367266",
          "RCV000924526",
          "RCV001272327",
          "RCV003950191"
        ],
        "variationId": 342145
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-50965075-C-T",
        "id": "22-50965075-C-T",
        "variant": "22:50965075 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50965075C>T?assembly=hg19",
        "id": "chr22:g.50965075C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50526646C>T?assembly=hg38",
        "id": "chr22:g.50526646C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/372421189",
        "rs": 372421189
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50965075-C-T?dataset=gnomad_r2_1",
        "id": "22-50965075-C-T",
        "variant": "22:50965075 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50526646-C-T?dataset=gnomad_r3",
        "id": "22-50526646-C-T",
        "variant": "22:50526646 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50526646-C-T?dataset=gnomad_r4",
        "id": "22-50526646-C-T",
        "variant": "22:50526646 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 50526646,
          "referenceAllele": "C",
          "start": 50526645
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50526646C>T",
        "CM000684.2:g.50526646C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 50965075,
          "referenceAllele": "C",
          "start": 50965074
        }
      ],
      "hgvs": [
        "NC_000022.10:g.50965075C>T",
        "CM000684.1:g.50965075C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 49311941,
          "referenceAllele": "C",
          "start": 49311940
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49311941C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8440,
          "referenceAllele": "G",
          "start": 8439
        }
      ],
      "hgvs": [
        "NG_011860.1:g.8440G>A",
        "LRG_727:g.8440G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4794,
          "referenceAllele": "G",
          "start": 4793
        }
      ],
      "hgvs": [
        "NG_016235.1:g.4794G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23431,
          "referenceAllele": "C",
          "start": 23430
        }
      ],
      "hgvs": [
        "NG_021419.1:g.23431C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003644"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 977,
          "referenceAllele": "G",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000252029.8:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252029.3:p.Glu286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252029.8:c.858G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001953.5:c.858G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252029.3:p.Glu286="
          },
          "RefSeq": {
            "hgvs": "NP_001944.1:p.Glu286="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1012,
          "referenceAllele": "G",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395680.6:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379037.1:p.Glu286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 977,
          "referenceAllele": "G",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395681.6:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379038.1:p.Glu286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000650719.1:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498276.1:p.Gly247Ser",
        "hgvsWellDefined": "ENSP00000498276.1:p.Gly247Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 450,
          "referenceAllele": "G",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000651401.1:c.342G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499115.1:p.Glu114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 359,
          "referenceAllele": "G",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000652401.1:c.359G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "G",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000252029.7:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252029.3:p.Glu286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249780"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "G",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395678.7:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379036.3:p.Glu286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 999,
          "referenceAllele": "G",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395680.5:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379037.1:p.Glu286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395681.5:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379038.1:p.Glu286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 856,
          "referenceAllele": "G",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000425169.1:c.759G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395875.1:p.Glu253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000476284.1:n.864G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1145,
          "referenceAllele": "G",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000487577.5:n.1145G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326112"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825567916",
      "coordinates": [
        {
          "allele": "A",
          "end": 1062,
          "referenceAllele": "G",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113755.2:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107227.1:p.Glu286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011278"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825568462",
      "coordinates": [
        {
          "allele": "A",
          "end": 1234,
          "referenceAllele": "G",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113756.2:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107228.1:p.Glu286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826449533",
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001257988.1:c.858G>A",
        "LRG_727t1:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244917.1:p.Glu286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826450043",
      "coordinates": [
        {
          "allele": "A",
          "end": 1050,
          "referenceAllele": "G",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001257989.1:c.858G>A",
        "LRG_727t2:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244918.1:p.Glu286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829364138",
      "coordinates": [
        {
          "allele": "A",
          "end": 1050,
          "referenceAllele": "G",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.4:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Glu286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825567916",
      "coordinates": [
        {
          "allele": "A",
          "end": 989,
          "referenceAllele": "G",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113755.3:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107227.1:p.Glu286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825568462",
      "coordinates": [
        {
          "allele": "A",
          "end": 1161,
          "referenceAllele": "G",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113756.3:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107228.1:p.Glu286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829364138",
      "coordinates": [
        {
          "allele": "A",
          "end": 977,
          "referenceAllele": "G",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.5:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Glu286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252029.8:c.858G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001953.5:c.858G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252029.3:p.Glu286="
          },
          "RefSeq": {
            "hgvs": "NP_001944.1:p.Glu286="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}